Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs74315364
rs74315364
13 0.732 0.200 1 182586014 stop gained C/A snv 3.6E-03; 4.0E-06 3.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs13387042
rs13387042
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.010 1.000 1 2009 2009
dbSNP: rs28997576
rs28997576
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.010 1.000 1 2006 2006
dbSNP: rs1131532
rs1131532
1 1.000 0.080 3 172506513 missense variant A/C;G;T snv 2.1E-05; 0.65 0.010 1.000 1 2010 2010
dbSNP: rs1462893414
rs1462893414
5 0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs796065354
rs796065354
9 0.882 0.080 6 151944320 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2007 2007
dbSNP: rs965384857
rs965384857
LPL
5 0.827 0.160 8 19954234 missense variant G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs2016347
rs2016347
9 0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4778137
rs4778137
6 0.827 0.080 15 28082689 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs17822931
rs17822931
7 0.827 0.080 16 48224287 missense variant C/G;T snv 4.0E-06; 0.22 0.13 0.010 1.000 1 2010 2010
dbSNP: rs744154
rs744154
11 0.763 0.280 16 13921224 intron variant G/C snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs1136201
rs1136201
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2005 2005
dbSNP: rs12947788
rs12947788
8 0.776 0.280 17 7674109 intron variant G/A snv 0.10 0.010 1.000 1 2007 2007
dbSNP: rs12951053
rs12951053
14 0.732 0.160 17 7674089 intron variant A/C snv 0.10 0.010 1.000 1 2007 2007
dbSNP: rs1625895
rs1625895
13 0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06 0.010 1.000 1 2007 2007
dbSNP: rs2909430
rs2909430
5 0.827 0.200 17 7675327 5 prime UTR variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs786202998
rs786202998
5 0.851 0.080 17 43091030 stop gained C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs9894946
rs9894946
2 0.925 0.160 17 7667762 intron variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs758272654
rs758272654
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007